ABSTRACT
Six female and two male children of UAE nationality who suffer from cystic fibrosis are presented. They have severe systemic disease and pancreatic insufficiency. All but the youngest had severe lung disease. Sweat electrolyte levels are grossly elevated. CF appears to be a more common disease in this country than has been previously recognised and the clinical presentation is in keeping with a major gene mutation
ABSTRACT
In order to identify the genetic mutations responsible for cystic fibrosis among United Arab Emirate nationals, we designed a pilot project that allowed the screening of 17 out of the 27 exons of the cystic fibrosis transmembrane conductance regulator gene [this gene encodes a 1480 amino acid long protein]. In order to detect rapidly any sequence change in the corresponding gene regions, we chose a strategy that was based on the techniques of denaturing gradient gel electrophoresis combined with asymmetric amplification DNA sequencing. A common mutation called the delta F 508 deletion, which accounts for 70% of cystic fibrosis chromosomes screened worldwide, was absent from the eight affected families. We discovered, however, that a T to G mutation resulting in the replacement of a serine by an arginine at position 549 of the protein [S549R] accounts for 75% of cystic fibrosis chromosomes studied [12 out of the 16 chromosomes that were screened in this study]. We also identified several polymorphisms that will be useful in the study of the co-segregation of deleterious alleles in most or all families affected by cystic fibrosis in the country